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GENE - TERM ANNOTATION REPORT

RGD ID: 1585222
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pet100
Name: PET100 cytochrome c oxidase chaperone
Acc ID: DOID:0070498
Term: mitochondrial complex IV deficiency nuclear type 12
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24462369/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Pet100 ISOPET100 (Homo sapiens)7240710OMIM  
Pet100 ISOPET100 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 PMID:32313153 PMID:9536098
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